Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

Download Full-text

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Vojnosanitetski pregled ◽

10.2298/vsp170316136j ◽

2020 ◽

Vol 77 (7) ◽

pp. 754-757

Author(s):

Ivana Joksic ◽

Thomas Liehr ◽

Mina Toljic ◽

Natasa Karadzov-Orlic ◽

Zagorka Milovanovic ◽

...

Keyword(s):

Umbilical Artery ◽

Partial Trisomy ◽

First Trimester ◽

Derivative Chromosome ◽

Chromosome 2 ◽

Balanced Translocation ◽

Single Umbilical Artery ◽

Partial Monosomy ◽

Cardiac Ventricle ◽

Cytogenetic Analyses

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

Download Full-text

Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Journal of Pediatric Neurology ◽

10.1055/s-0037-1603996 ◽

2017 ◽

Vol 15 (06) ◽

pp. 332-337

Author(s):

Yael Goldberg ◽

Racheli Berger ◽

Amir Peleg ◽

Lena Sagi-Dain

Keyword(s):

Clinical Features ◽

Partial Trisomy ◽

Balanced Translocation ◽

Partial Monosomy ◽

Familial Translocation ◽

Partial Monosomy 5P

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

Download Full-text

Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)

Cytogenetic and Genome Research ◽

10.1159/000438973 ◽

2015 ◽

Vol 146 (3) ◽

pp. 222-229 ◽

Cited By ~ 3

Author(s):

Alessandra Iannuzzi ◽

Viviana Genualdo ◽

Angela Perucatti ◽

Alfredo Pauciullo ◽

Giovanna Varricchio ◽

...

Keyword(s):

Chromosomal Aberration ◽

Case Reports ◽

Fatal Outcome ◽

Partial Trisomy ◽

Fish Analysis ◽

Derivative Chromosome ◽

Chromosome 11 ◽

Balanced Translocation ◽

Partial Monosomy ◽

Cytogenetic Investigation

A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.

Download Full-text

Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2020-0023 ◽

2020 ◽

Vol 23 (2) ◽

pp. 79-86

Author(s):

F Stipoljev ◽

M Barbalic ◽

M Logara ◽

A Vicic ◽

M Vulic ◽

...

Keyword(s):

Late Pregnancy ◽

Partial Trisomy ◽

Cystic Hygroma ◽

Fish Analysis ◽

Unbalanced Translocation ◽

Balanced Translocation ◽

Partial Monosomy ◽

Sonographic Examination ◽

Gene Map

Abstract We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks’ gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes. Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

Download Full-text

A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24)

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2021/50121.15274 ◽

2021 ◽

Author(s):

Anjali Satyen Sabnis ◽

Anurita S Pais ◽

Gauri Pradhan

Keyword(s):

Chromosomal Aberrations ◽

Genetic Material ◽

Partial Trisomy ◽

Derivative Chromosome ◽

Chromosome 6 ◽

Balanced Translocation ◽

Partial Monosomy ◽

Current Case ◽

Long Time ◽

Future Pregnancy

Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations. Translocation is one of the structural chromosomal aberrations where exchange of genetic material between the chromosomes is seen because of two breakpoints. On the basis of involvement of type of chromosome, two different types of translocation are defined. A case of two-year-old girl child with the history of developmental delay, generalised hypotonia and recurrent infections was reported whose cytogenetic analysis showed additional genetic material on ‘p’ arm of one chromosome 6. To find out the additional genetic material, parental chromosomal study was done which revealed balanced translocation between ‘q’ arm of chromosome 10 and ‘p’ arm of chromosome 6 and normal chromosomal pattern in father. Balanced translocation in mother gave rise to formation of derivative chromosome 6 which was transmitted to daughter causing partial trisomy of 10q and partial monosomy of 6p. This gain and loss of genetic material could be the cause of phenotypic features. In the current case, karyotyping was an investigation of choice and offering genetic counselling regarding prenatal diagnosis in future pregnancy was a thoughtful step.

Download Full-text

Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation

Journal of Paediatrics and Child Health ◽

10.1046/j.1440-1754.2001.00587.x ◽

2001 ◽

Vol 37 (2) ◽

pp. 198-200 ◽

Cited By ~ 7

Author(s):

K Maruyama ◽

T Koizumi ◽

H Ikeda

Keyword(s):

Partial Trisomy ◽

Balanced Translocation ◽

Partial Monosomy

Download Full-text

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Case Reports in Genetics ◽

10.1155/2012/821347 ◽

2012 ◽

Vol 2012 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Yuan Wei ◽

Xuefeng Gao ◽

Liying Yan ◽

Fang Xu ◽

Peining Li ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Partial Trisomy ◽

Psychomotor Retardation ◽

Oligonucleotide Array ◽

Comparative Genomic ◽

Review Of The Literature ◽

Balanced Translocation ◽

Partial Monosomy ◽

Neonatal Deaths ◽

Ultrasound Monitoring

We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.

Download Full-text

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Molecular Cytogenetics ◽

10.1186/s13039-021-00566-x ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Caroline Miller ◽

Benjamin G. Gertsen ◽

Audrey L. Schroeder ◽

Chin-To Fong ◽

M. Anwar Iqbal ◽

...

Keyword(s):

Intellectual Disability ◽

Gene Disruption ◽

Single Gene ◽

Horseshoe Kidney ◽

Partial Trisomy ◽

Primary Amenorrhea ◽

Fish Analysis ◽

Balanced Translocation ◽

Partial Monosomy ◽

Congenital Cataracts

AbstractNance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disability. Females typically have a milder presentation. The majority of reported cases of NHS are the result of nonsense mutations and small deletions. Isolated X-linked congenital cataract is caused by non-recurrent rearrangement-associated aberrant NHS transcription. Classic NHS in females associated with gene disruption by balanced X-autosome translocation has been infrequently reported. We present a familial NHS associated with translocation t(X;19) (Xp22.13;q13.1). The proband, a 28-year-old female, presented with intellectual disability, dysmorphic features, short stature, primary amenorrhea, cleft palate, and horseshoe kidney, but no NHS phenotype. A karyotype and chromosome microarray analysis (CMA) revealed partial monosomy Xp/partial trisomy 19q with the breakpoint at Xp22.13 disrupting the NHS gene. Family history revealed congenital cataracts and glaucoma in the patient’s mother, and congenital cataracts in maternal half-sister and maternal grandmother. The same balanced translocation t(X;19) was subsequently identified in both the mother and maternal half-sister, and further clinical evaluation of the maternal half-sister made a diagnosis of NHS. This study describes the clinical implication of NHS gene disruption due to balanced X-autosome translocations as a unique mechanism causing Nance–Horan syndrome, refines dose effects of NHS on disease presentation and phenotype expressivity, and justifies consideration of karyotype and fluorescence in situ hybridization (FISH) analysis for female patients with familial NHS if single-gene analysis of NHS is negative.

Download Full-text